Canonical Allele Identifier: CA339029060

Gene: HMGCL

Linked Data

• dbSNP Id: rs1357942068
• gnomAD v4: 1-23817503-G-T
• MyVariant Identifiers: chr1:g.24143993G>T (hg19) ; chr1:g.23817503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817503G>T , CM000663.2:g.23817503G>T	GRCh38
NC_000001.10:g.24143993G>T , CM000663.1:g.24143993G>T	GRCh37
NC_000001.9:g.24016580G>T	NCBI36
NG_013061.1:g.12957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.225C>A MANE Select	ENSP00000363614.3:p.Ser75Arg
ENST00000235958.4:c.131+3007C>A
ENST00000374487.6:c.*266C>A	ENSP00000363611.2:n.*266C>A
ENST00000374490.7:c.225C>A	ENSP00000363614.3:p.Ser75Arg
ENST00000436439.6:c.225C>A	ENSP00000389281.2:p.Ser75Arg
ENST00000498698.1:n.31C>A
ENST00000509389.5:n.237C>A
ENST00000513148.1:n.226C>A
NM_000191.2:c.225C>A	NP_000182.2:p.Ser75Arg
NM_001166059.1:c.225C>A	NP_001159531.1:p.Ser75Arg
NM_000191.3:c.225C>A MANE Select	NP_000182.2:p.Ser75Arg
NM_001166059.2:c.225C>A	NP_001159531.1:p.Ser75Arg